| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422176C>T | CA221207 | BCKDHA | c.659C>T (p.Ala220Val) c.593C>T (p.Ala198Val) n.288C>T n.785C>T c.761C>T (p.Ala254Val) c.559C>T c.572C>T (p.Ala191Val) n.287C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422176C= | CA2336458983 | BCKDHA | c.659C= (p.Ala220=) c.593C= (p.Ala198=) n.288C= n.785C= c.761C= (p.Ala254=) c.559C= c.572C= (p.Ala191=) n.287C= | dbSNP dbSNP |